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Ataxia‐telangiectasia (A‐T) is an autosomal recessive neurodegenerative disorder with multisystem involvement and cancer predisposition, caused by mutations in the A‐T mutated (ATM) gene. To study genotype–phenotype correlations, we evaluated the clinical and laboratory data of 51 genetically proven A‐T patients, and additionally measured ATM protein expression and kinase activity. Patients without...
Missense mutations in the PRKCG gene have recently been identified in spinocerebellar ataxia 14 (SCA14) patients; these include the Gly118Asp mutation that we found in a large Dutch autosomal dominant cerebellar ataxia (ADCA) family. We subsequently screened the current Dutch ataxia cohort (approximately 900 individuals) for SCA14 mutations in the Cys2 region of the PRKCG gene. We identified the Gly118Asp...
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